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Principal Investigator(s)

Diamond-Blackfan Anemia syndrome research group

Anemia, iPSC, ribosomopathy

Research aim

We have developed patient iPSC models to increase our understanding of DBAS disease biology and design novel targeted therapies. In combination with the detailed clinical data from our DBAS registry we aim to improve lifelong clinical management.

About us

Diamond-Blackfan anemia syndrome (DBAS) is a rare inherited bone marrow failure syndrome characterized by severe hypoplastic anemia, congenital malformations, and an increased cancer risk. Since DBAS is genetically, biologically and clinically a very heterogeneous disorder, it is important to both systematically collect clinical data (in a registry study), and to develop adequate disease models to increase our insights in disease biology. Together, this contribute to the development of novel, targeted therapies and improve clinical management of DBAS patients. iPSC are ideal model systems to study rare diseases and to overcome the scarce availability of patient material. As part of the TRACER consortium (ZonMw PSIDER program), we have developed a variety of DBAS iPSC-lines lines representing distinct molecular subgroups and clinical severity. These can be used to develop and test novel candidate drugs, and explore the potential of genetically corrected iPSC-derived red blood cells (for transfusion?), and corrected HSC (for autologous transplantation?). As a research group we are part of a European DBAS research consortium (EuroDBA), and we work closely together with DBAS clinicians worldwide.